CELSR3
Cadherin EGF LAG Seven-Pass G-Type Receptor 3
Gene Information Card
| Symbol | CELSR3 |
|---|---|
| Full Name | Cadherin EGF LAG Seven-Pass G-Type Receptor 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 1951 ncbi.nlm.nih.gov/gene/1951 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | Q9NYQ7 |
| OMIM ID | 604264 |
| HGNC ID | 3230 |
| Aliases | CDHF11, EGFL1, FMI3, MEGF3, ADGRC3 |
Description
CELSR3 encodes a member of the flamingo subfamily of cadherins, which are atypical cadherins with seven transmembrane domains and EGF-like repeats. The protein functions as a receptor in planar cell polarity (PCP) signaling and is critical for neuronal development, including axon guidance and dendrite formation. Mutations in CELSR3 are associated with neural tube defects and other developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neural tube defects | Disrupted planar cell polarity signaling affecting neural tube closure | ClinVar |
| Bardet-Biedl syndrome (possible modifier) | Potential involvement in ciliary function and PCP pathways | OMIM |
| Schizophrenia (susceptibility) | Altered neuronal connectivity and synaptic function | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Lung | 1.8 | Low |
| Kidney | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal model |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| HepG2 (liver cancer) | 0.9 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2671C>T (p.Arg891*) | Nonsense | Rare | Loss of function; associated with neural tube defects |
| c.1234G>A (p.Gly412Ser) | Missense | Unknown | Potential impact on protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Possible for missense variants affecting dimerization or signaling.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • calcium ion binding |
| • cell adhesion | • planar cell polarity pathway |
| • axon guidance | • dendrite morphogenesis |
Pathways
• Planar cell polarity (PCP) pathway
• Wnt signaling pathway
• Neuronal development
Protein Summary
CELSR3 is a 2,912-amino acid transmembrane protein with extracellular cadherin repeats, EGF-like domains, and a G-protein-coupled receptor domain. It mediates cell-cell adhesion and PCP signaling, essential for tissue morphogenesis and neural circuit formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CELSR3 Knockout HEK293 Cell Line | EDJ-KQ4504 | Human | 1951 | Details Get a Quote |
| CELSR3 Knockout A-549 Cell Line | EDJ-KQ27102 | Human | 1951 | Details Get a Quote |
| CELSR3 Knockout HCT 116 Cell Line | EDJ-KQ27103 | Human | 1951 | Details Get a Quote |
| CELSR3 Knockout HeLa Cell Line | EDJ-KQ27104 | Human | 1951 | Details Get a Quote |
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